Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26 : 0) β-oxidation in cultured chorionic villous fibroblasts: Implications for early diagnosis of other peroxisomal disorders

1987 ◽  
Vol 165 (2-3) ◽  
pp. 303-310 ◽  
Author(s):  
R.J.A. Wanders ◽  
M.J.A. van Wijland ◽  
C.W.T. van Roermund ◽  
R.B.H. Schutgens ◽  
H. van den Bosch ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Prenatal Diagnosis ◽  
Early Diagnosis ◽  
Zellweger Syndrome ◽  
Chain Fatty Acid ◽  
Peroxisomal Disorders ◽  
Long Chain Fatty Acid ◽  
Long Chain

Peroxisomal very long-chain fatty acid β-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders

1987 ◽  
Vol 166 (2-3) ◽  
pp. 255-263 ◽  
Author(s):  
R.J.A. Wanders ◽  
C.W.T. van Roermund ◽  
M.J.A. van Wijland ◽  
J. Heikoop ◽  
R.B.H. Schutgens ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Human Skin ◽  
Zellweger Syndrome ◽  
Chain Fatty Acid ◽  
Skin Fibroblasts ◽  
Human Skin Fibroblasts ◽  
Peroxisomal Disorders ◽  
Long Chain Fatty Acid ◽  
Long Chain

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

1985 ◽  
Vol 69 (3) ◽  
pp. 272-274 ◽  
Author(s):  
Joëlle Boué ◽  
Isabelle Oberle ◽  
Roland Heilig ◽  
Jean Louis Mandel ◽  
Ann Moser ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Prenatal Diagnosis ◽  
Linkage Analysis ◽  
First Trimester ◽  
Chain Fatty Acid ◽  
Dna Probe ◽  
Long Chain Fatty Acid ◽  
Long Chain

scholarly journals Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders

2008 ◽  
Vol 49 (8) ◽  
pp. 1855-1862 ◽  
Author(s):  
Osama Y. Al-Dirbashi ◽  
Tomofumi Santa ◽  
Mohamed S. Rashed ◽  
Zuhair Al-Hassnan ◽  
Nobuyuki Shimozawa ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Chain Fatty Acid ◽  
Routine Analysis ◽  
Peroxisomal Disorders ◽  
Long Chain Fatty Acid ◽  
Long Chain ◽  
Fatty Acid Markers

Complications in Early Diagnosis and Treatment of Two Infants With Long-Chain Fatty Acid β-Oxidation Defects

2000 ◽  
Vol 31 (4) ◽  
pp. 448-452 ◽  
Author(s):  
Daniela Skladal ◽  
Jörn Oliver Sass ◽  
Harald Geiger ◽  
Ralf Geiger ◽  
Christian Mann ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Early Diagnosis ◽  
Chain Fatty Acid ◽  
Diagnosis And Treatment ◽  
Long Chain Fatty Acid ◽  
Long Chain

Serum very long chain fatty acid pattern in Zellweger syndrome

1984 ◽  
Vol 138 (3) ◽  
pp. 325-331 ◽  
Author(s):  
J.A.J.M. Bakkeren ◽  
L.A.H. Monnens ◽  
J.M.F. Trijbels ◽  
J.M. Maas
Keyword(s):  
Fatty Acid ◽  
Zellweger Syndrome ◽  
Fatty Acid Pattern ◽  
Chain Fatty Acid ◽  
Long Chain Fatty Acid ◽  
Long Chain
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